OSCS (Osteopathia striata mit kranialer Sklerose) ist eine x-chromosomal kodominant Erkrankung, die durch Mutationen des AMER1-Gens hervorgerufen wird. Während die Erkrankung bei Jungen oft letal verläuft zeigen weibliche Anlageträger eine ausgeprägte Sklerose der Schädel und Röhrenknochen.
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OMIM.ORG article Omim 300373 |